Article

Increased mutation rate and interlocus gene conversion within human segmental duplications

2022-07-07

Abstract excerpt

<h4>ABSTRACT</h4> Single-nucleotide variants (SNVs) within segmental duplications (SDs) have not been systematically assessed because of the difficulty in mapping short-read sequence data to virtually identical repetitive sequences. Using 102 phased human haplotypes, we constructed 1:1 unambiguous alignments spanning high-identity SDs and compared the pattern of SNVs between unique and SD regions. We find that hu...

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Literature Corpus work: 9955d2de-0abc-5e28-9234-c40c4f235ad1
DOI: 10.1101/2022.07.06.498021

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